“Perfect DNA”: The Health Paradigm May be About to Change

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28 Sep 17

Frida Holme

Many of the big healthcare changes that we want to see from genomics hinge on bioinformatics, a field that Manuel Corpas is extensively involved in. Working as Scientific Lead at Repositive, a startup focused on genomic data discovery, Manuel has had a varied career across several institutions. From the European Bioinformatics Institute to The Genome Analysis Centre, he has been involved in some of the most exciting genomic data projects around. Previously, he has written for Front Line Genomics about his experiences with direct-to-consumer test kits, and the privacy challenges that we face when armed with this data. What does medicine look like in the era of direct-to-consumer genomics? In his recent novel, ‘Perfect DNA’ Manuel explores how the health paradigm may be about to change.

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FLG: Your book revolves around genetic testing. That’s something you’re involved with on a professional level, and something you’ve navigated on a personal level. What made you write the book? Was it the need to talk about a growing issue around genetic testing, or was it out of a desire to be a writer?

MC: I have written Perfect DNA first and foremost because I felt compelled to tell a story. I started my genome research career as senior developer of one of the leading databases for the diagnosis of patients with rare genomic disorders, the DECIPHER Database at the Wellcome Trust Sanger Institute. By then direct-to-consumer companies such as 23andMe initiated the provision of personal genomics services. Knowing how hard it is for clinicians to navigate the complexity of human genomics made me think what it will be like when personal genomics becomes widespread in society. This has been my motivation for writing this book. I have performed pretty much every personal genetic test I could financially afford and together with my family, I have undergone the pioneering step of publishing all our data and results online for others to reuse. The book is simply an extrapolation of what I have lived, looking into questions that have not been properly discussed yet but will affect us all sooner or later: how would one monetise the genome? What would it be like if there was a genetic score that ranks people according to their predicted fitness? How would you share your genetic data with the rest of your family? How would this affect one’s chances for insurance, jobs, etc?

FLG: Who would you say the book is for?

MC: The book is a fictional novel intended for the lay public interested to learn about the genome revolution. The book has real fictional characters and is intended to be amenable to read. Although science appears inevitably, I have worked on the book to make sure that there were strong characters with credible personalities. Characters who are conflicted with the reality of being measured and ranked according to something they were born with: their genome.

FLG: How do you explain what the book is about it geneticists and to non-geneticists?

MC: For geneticists: it is a (hopefully) scientifically-sound speculative exercise to understand the future of direct-to-consumer personal genetic testing.

For non-geneticists: it is a novel that describes personal relationships and challenges around genetic testing in the future, assuming that a genetic score that ranks individuals will be an existing paradigm.

Genetic testing is the ability to measure your DNA variation at specific sites that we know affect your personal traits. DNA variations can affect one’s health, looks and even moods.

FLG: How did the experience of writing a novel compare to writing a thesis?

MC: For someone who has mainly written scientific work up to now, writing a thesis is probably easier because it can be chunked down into sparsely interconnected sections and what you do is simply to report on what you have worked on. The book is a continuum where characters take a life of their own and you as a writer do not know where they are going to take you.

FLG: Why did you decide to self-publish instead of go through more traditional publishing routes?

MC: It’s complicated. The proceeds for this book are donated to the charity DNAdigest, which supports ethical genome data sharing. This was the best formula that we found to support the charity.

FLG: Are there writers out there that you particularly admire or who have influenced your style?

MC: Stephen King’s book ‘On writing’, was what made me give it a go. The honesty and ability to tell the truth, even if it is fiction, is what is at the centre of my novel, and, this has been influenced solely by that book, which I treasure so much.

MC: Your motivation is more important than the content. Find a story and then write it. You can always refine it or change it later. Here is a quote from King’s book ‘On writing’: write to please some of your readers some of the time. That is enough.

FLG: Do you think you have another book in you?

MC: Oh yes. More than one are in the back burner right now. It’s just a question of baking them.

FLG: Anything else you’d like to mention?

MC: Sometimes the scientific method can be restrictive when telling a story, particularly when there is no way of generating data that supports that story. At that point, there are other ways in which one can learn. I decided to learn from reality by imaging a ‘what if’ scenario. It is very important that all of us have a clear understanding of the transformative power that is currently in the making with Genomics, but like all advancements, it comes with a price. So do not let that price to be a crackdown in personal relationships.

Friends of Front Line Genomics can download the e-book for free. You can let Manuel know what you think about his book by reviewing it on Amazon.